Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

BACKGROUND: The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The large number of ARCA genes leads to delay and difficulties obtaining an exact diagnosis in many patients and families. Ubiquinone (CoQ10) deficiency...

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Detalhes bibliográficos
Main Authors: Liu, Yo-Tsen, Hersheson, Joshua, Plagnol, Vincent, Fawcett, Katherine, Duberley, Kate E C, Preza, Elisavet, Hargreaves, Iain P, Chalasani, Annapurna, Laurá, Matilde, Wood, Nick W, Reilly, Mary M, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2014
Assuntos:
Neurogenetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3995328/
https://ncbi.nlm.nih.gov/pubmed/24218524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2013-306483
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